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我们最初提出fra(X)综合征遗传异质性的可能性是基于这样的观察,即:在第Ⅸ因子(F 9)和fra(X)多态性探针之间,某些家系显示出不重组,而其他家系则显示出重组率高。后来我们进行了连锁分析,当我们根据是否存在一个非外显的、能遗传fra(X)的男性(TM)而进行家系分类时,使用“预分”样本统计法,发现了显著的异质性证据。当我们把其他fra(X)家系收入到我们的样本中,分析ST14和52A多态探针的附加连锁资料时,再一次发现了显著异质性的证据。
The possibility that we originally proposed the genetic heterogeneity of the fra (X) syndrome is based on the observation that some families show an association between the factor IX (F9) and the fra (X) polymorphism probe No restructuring, while other families showed a high recombination rate. We then performed a linkage analysis and found that we found significant heterogeneity using the “precore” sample statistical method when classifying families based on the presence or absence of a non-overt, fra (X) -relevant male (TM) Sexual evidence. When we incorporated additional fra (X) pedigrees into our sample and analyzed additional linkage data for the ST14 and 52A polymorphic probes, we again found evidence of significant heterogeneity.